title: Isolated growth hormone deficiency, ovarian dysgenesis and Turner stigmata with normal chromosomal complement.
abstract: An 18 year old white female presented with short stature and amenorrhoea. Her height was 135 cm, weight 46.6 kg; she had a broad neck, a high arched palate, short fifth metacarpals bilaterally, short third, fourth and fifth metatarsals bilaterally and minimal breast development. Although the clinical picture strongly suggested Turner's syndrome, investigations revealed: (a) normal female 46,XX chromosomal pattern on analyses of skin, lymphocytes and ovarian tissue; (b) undetectable serum growth hormone levels; (c) pre-pubertal oestradiol-17 beta levels; (d) only very occasional primordial follicles on ovarian biopsy with a thickened capsule; and (e) basal LH and FSH levels of 6.8 to 9.6 mIU/ml which rose after LRH injection to 90 and 26 mIU/ml, respectively. The patient has the unusual combination of growth hormone deficiency, gonadal dysgenesis and Turner stigmata with a normal chromosomal complement.
mesh_terms: D000293:Adolescent; D004958:Estradiol / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000494:pharmacology; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D010053:Ovary / Q000002:abnormalities*; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*; D014960:X Chromosome
chemical_list: D007987:Gonadotropin-Releasing Hormone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013006:Growth Hormone; C010452:estradiol-17 beta-benzoate